Allele Registry

Canonical Allele Identifier: PA2826211407

Gene: LDLR HGNC NCBI

ClinVar Allele:

245449

ClinVar RCV:

RCV000237660

RCV001857821

ClinVar Variation:

251106

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182727.1:p.Asp90Tyr	CA10584820 NM_001195798.2:c.268G>T